Patient Education Blog

Archive for the ‘Inherited (genetic)’ Category

Clotting Disorders (Thrombophilia): Who Should Be Tested? What To Test?

| Antiphospholipid antibodies, Antithrombin deficiency, APC resistance, Clotting disorder - thrombophilia, Factor V Leiden, Homocysteine, MTHFR, Inherited (genetic), Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Thrombophilia lab tests, Whom to test | Comments Off on Clotting Disorders (Thrombophilia): Who Should Be Tested? What To Test?

Stephan Moll, MD writes… A publication today in the journal Vascular Medicine discusses – for patients and family members – (a) in which patient with blood clots (DVT, PE) to consider testing for a clotting disorder, (b) what tests might be appropriate to do, (c) how the test results influence management with blood thinners, (d) what birth control methods are safe in women with history of blood clots or a clotting disorder,  and (e) in which family members to consider thrombophilia testing (link here for the article).

 

Disclosures:  None

Last updated: April 1st, 2015

 

 

Testing for Clotting Disorders – Can It Be Done While on Blood Thinners?

| Acquired risk factors, Antiphospholipid antibodies, Antithrombin deficiency, APC resistance, Clotting disorder - thrombophilia, Factor V Leiden, Inherited (genetic), Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation | Comments Off on Testing for Clotting Disorders – Can It Be Done While on Blood Thinners?

Stephan Moll, MD writes…  The decision how long to treat a patient who has had a DVT or PE with blood thinners can often be made based just on the patient’s history. Often no testing for clotting disorders (thrombophilias) is needed.  The decision how long to treat is influenced by 3 factors: (1) What is the person’s risk of another clot if he/she is not on blood thinners any more? (2) What is the person’s risk for bleeding on blood thinners? (3) What is the person’s own preference regarding his/her treatment. These issues are discussed in detail here.

However, if one were to do testing, what is the  right time to test? It is important to know that some blood thinners can influence test results.

Read the rest of this entry »

Thrombophilia and Insurance

| Clotting disorder - thrombophilia, Inherited (genetic), Psychological and social consequences of blood clots, Thrombophilia lab tests | 4 Comments »

Liz Varga, Certified Genetic Counselor, Nationwide Children’s Hospital, Columbus OH writes….

Some people may have concerns about genetic testing for clotting disorders (thrombophilias) for fear of genetic discrimination.  Fortunately in the United States, we have laws in place that can alleviate this concern. Read the rest of this entry »

Protein C Deficiency

| Inherited (genetic), Protein C deficiency | 2 Comments »

What is Protein C?

Protein C is a protein in our blood stream, which prevents blood from clotting too much.  It’s a sort of police protein that keeps our clotting in check.  If protein C levels are low, a person will have a tendency to clot more easily.  Elevated levels of protein C, on the other hand, appear to be irrelevant; they do not lead to an increased bleeding tendency.

What Problems Does Protein C Deficiency Cause?
Inherited protein C deficiency increases the risk for blood clots;  Read the rest of this entry »

Pregnancy Loss and Clotting Disorders

| Antiphospholipid antibodies, Antithrombin deficiency, Clotting disorder - thrombophilia, Factor V Leiden, Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Therapy, Women and blood clots | 8 Comments »

How common is pregnancy loss? What are the causes?

Pregnancy loss (= miscarriage) in the general population is common. Most losses occur in the first trimester. As many as 5 % of women have 2 or more early losses; 1-2 % have 3 or more early losses [ref 1]. Well established risk factors for pregnancy loss are: (a) advanced age of the mother, (b) anatomic abnormalities of the uterus (such as fibroids), (c) chromosome abnormalities of fetus, the mother or the father, (d) underlying diseases of the mother (endocrine, immunologic), (e) maternal hormonal unbalances.  The acquired clotting disorder called “antiphospholipid antibody syndrome” is also a risk factor for pregnancy loss. The role of inherited clotting disorders (= thrombophilias) contributing to pregnancy loss is less clear. Read the rest of this entry »

Family Member Testing for Thrombophilia

| Clotting disorder - thrombophilia, Factor V Leiden, Inherited (genetic), Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Thrombophilia lab tests | 4 Comments »

Stephan Moll, MD writes…

Background

If a thrombophilia (clotting disorder) has been identified in a patient with blood clots (venous thromboembolism = VTE), the question arises whether other family members should be tested for the same thrombophilia.

My Clinical Approach

My approach in clinical practice to thrombophilia testing in family members is summarized in table 1:  Testing of Family Members. Read the rest of this entry »